GM case-1

A case of 42yr old female with multiple health events since birth

May 16, 2020

Following is my analysis of the 42 year old female  patient multiple problems which she had since birth

*Jaundice at birth associated with other congenital malformations

 (Suggests that there may be hemolysis at birth)

*Sleeplessness
 (since birth which might have occurred due to   G6PD Deficiency or AMPD1 deficiency)

    {These diagnoses were suspected based on other symptoms like:

Anaemia, Exacerbation of symptoms after consumption of flava beans and antiviral drugs for G6PD deficiency.
Muscle dysfunction for AMPD1 deficiency.}

*Fluctuating Edema 

(Overview of G6PD deficiency:           https://medlineplus.gov/ency/article/000528.htm)
(Edema was extremely fluctuating within days and trigger points as mentioned by the patient were Emotional stress, Eating wrong food, Exercise in excess, Smoke.
It relieved spontaneously.
Associated with SOB and dark urine.
These features are suggestive of G6PD deficiency which causes damage to the organs like kidney by free radicals because of lack of NADPH.
Also kidney needs a lot of energy for ions active transport and water balance in the body. The Edema have occurred because of excessive loss of ions.
Also the Hemolysis caused because of G6PD deficiency is responsible for fatigue and SOB because of reduced red blood cell count. The same must have been the reason for dark coloured urine also as complained by the patient.)

*Neurological Symptoms
(The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema.
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.)

*Fatigue
(This must have caused directly because of haemolytic anaemia and less red blood cell count.]
AMPD1 deficiency causing muscle weakness because OD decreased aerobic input and increased anaerobic output.                                                                                                                  Following are some other conditions noticed:

• She had excessive body hair at 3 years which might be because of PCOS. Further she complained of dysmenorrhea, Ectopic pregnancy and Ovarian cysts.
• Increased pain tolerance - WNK1 Hereditary Sensory Neuropathy.
• MTHFR gene - Hyperhomocystinemia
• VWF mutation - bleeding disorders, Menstrual bleeding.
• ANKK1 - ADHD
• Increased risk of infections

Family history:
Mother was diagnosed for fibromyalgia.

Father had heart attack in 40s.

Grand father had early death

Genetics:

Seattle type G6PD deficiency

AMPD1 - AMPD1 deficiency heterozygous

MTHFR - homozygous for C677T of MTHFR = 10-20% efficiency in processing folic acid = high homocysteine, low B12 and folate levels

AMPD1 deficiency

WNK1 mutation

HLA-DRA - 3x higher risk for developing a peanut allergy In populations of European ancestry

VWF - association with Von Willebrand disease type 1

DIO2 - 1.3-1.79x risk of osteoarthritis, 3.75x bipolar, etc.

CHRNA5 - higher risk for nicotine dependence, lower risk for cocaine dependence

ANKK1 - Tardive Diskinesia risk, higher ADHD risk. More Alcohol Dependence. Lower risk of Postoperative Nausea. Increased obesity.

TG - 1.3x to 11.5x Increased risk of autoimmune thyroid disease

LOXL1 LOXL1-AS1 - common but 10x higher glaucoma risk in most (but not all) populations

PNPLA3 - increased liver fat, odds of alcoholic liver disease

BACE1 - 2x increased ALZ risk in ApoE4 carriers

BSN - 1.1x risk Crohn's Disease

Increased risk for Alzheimers, ADHD, Autoimmune thyroid & other autoimmune disorders, lung cancer, cluster headache, Obesity, raised ICP, Diabetes, RA, Bipolar disorders, Lung cancer and issues

{whole genome sequencing helps a lot to understand about these genetic conditions}

Treatment:

 1- Ribose diet

2- L serine for sleep

3- cutting oxidative stress 

4.vitamin B complex

5.antioxidant vitamins

6.fructose+antioxdants 

7 salt + butter

8.keto diet.

9. iron folate supplemets.

10. antioxidant supplement pycnogenol 

11.cimetidine for swelling - tried and helped

12. NAC